Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Rgs22'

393578

Institutional Source

Beutler Lab

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36040790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 899 (V899A)

Ref Sequence

ENSEMBL: ENSMUSP00000134185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172831] [ENSMUST00000174881]

AlphaFold

G3UYX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172831
AA Change: V1023A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: V1023A

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	62	76	N/A	INTRINSIC
low complexity region	173	179	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
RGS	845	973	3.15e-2	SMART
RGS	1014	1134	1.56e-15	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173018
AA Change: V12A

SMART Domains

Protein: ENSMUSP00000133703
Gene: ENSMUSG00000037627
AA Change: V12A

Domain	Start	End	E-Value	Type
RGS	4	124	1.56e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174881
AA Change: V899A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: V899A

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
RGS	721	849	3.15e-2	SMART
RGS	890	1010	1.56e-15	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,495 (GRCm39)	V781A	probably damaging	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Jph3	T	C	8: 122,479,787 (GRCm39)	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Wdcp	C	A	12: 4,900,617 (GRCm39)	R158S	probably damaging	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	Het

Other mutations in Rgs22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Rgs22	APN	15	36,100,077 (GRCm39)	missense	possibly damaging	0.93
IGL00594:Rgs22	APN	15	36,083,777 (GRCm39)	missense	probably benign	0.00
IGL01464:Rgs22	APN	15	36,083,787 (GRCm39)	missense	possibly damaging	0.90
IGL01686:Rgs22	APN	15	36,103,981 (GRCm39)	missense	probably benign	0.00
IGL01761:Rgs22	APN	15	36,103,897 (GRCm39)	missense	probably damaging	0.99
IGL02045:Rgs22	APN	15	36,013,300 (GRCm39)	missense	probably benign	0.33
IGL02378:Rgs22	APN	15	36,103,951 (GRCm39)	missense	probably benign	0.00
IGL02490:Rgs22	APN	15	36,054,993 (GRCm39)	missense	probably damaging	1.00
IGL03219:Rgs22	APN	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
IGL03229:Rgs22	APN	15	36,015,925 (GRCm39)	splice site	probably benign
IGL03328:Rgs22	APN	15	36,043,350 (GRCm39)	critical splice donor site	probably null
3-1:Rgs22	UTSW	15	36,100,182 (GRCm39)	missense	possibly damaging	0.48
R0254:Rgs22	UTSW	15	36,104,698 (GRCm39)	missense	probably damaging	0.99
R0463:Rgs22	UTSW	15	36,093,084 (GRCm39)	missense	probably damaging	1.00
R0467:Rgs22	UTSW	15	36,099,941 (GRCm39)	nonsense	probably null
R0486:Rgs22	UTSW	15	36,093,028 (GRCm39)	missense	probably damaging	0.98
R0554:Rgs22	UTSW	15	36,054,855 (GRCm39)	missense	probably benign	0.10
R0602:Rgs22	UTSW	15	36,140,018 (GRCm39)	splice site	probably benign
R0906:Rgs22	UTSW	15	36,104,048 (GRCm39)	intron	probably benign
R1159:Rgs22	UTSW	15	36,040,839 (GRCm39)	missense	probably damaging	1.00
R1300:Rgs22	UTSW	15	36,101,908 (GRCm39)	missense	probably benign	0.43
R1439:Rgs22	UTSW	15	36,025,939 (GRCm39)	splice site	probably benign
R1491:Rgs22	UTSW	15	36,093,047 (GRCm39)	missense	probably damaging	0.98
R1502:Rgs22	UTSW	15	36,080,997 (GRCm39)	missense	probably damaging	1.00
R1514:Rgs22	UTSW	15	36,013,246 (GRCm39)	missense	probably benign	0.00
R1538:Rgs22	UTSW	15	36,048,922 (GRCm39)	missense	probably damaging	1.00
R1784:Rgs22	UTSW	15	36,087,582 (GRCm39)	missense	probably damaging	1.00
R1938:Rgs22	UTSW	15	36,101,950 (GRCm39)	missense	probably benign	0.00
R1972:Rgs22	UTSW	15	36,103,982 (GRCm39)	missense	probably benign	0.01
R2109:Rgs22	UTSW	15	36,099,880 (GRCm39)	nonsense	probably null
R2208:Rgs22	UTSW	15	36,050,378 (GRCm39)	missense	probably benign	0.01
R3696:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3697:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3698:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3879:Rgs22	UTSW	15	36,107,051 (GRCm39)	missense	possibly damaging	0.52
R4080:Rgs22	UTSW	15	36,107,222 (GRCm39)	missense	probably damaging	1.00
R4363:Rgs22	UTSW	15	36,104,020 (GRCm39)	missense	probably damaging	0.99
R4591:Rgs22	UTSW	15	36,100,282 (GRCm39)	missense	probably benign	0.01
R4673:Rgs22	UTSW	15	36,100,079 (GRCm39)	missense	probably benign	0.04
R4829:Rgs22	UTSW	15	36,104,034 (GRCm39)	missense	probably damaging	1.00
R4831:Rgs22	UTSW	15	36,050,294 (GRCm39)	missense	probably benign	0.00
R4865:Rgs22	UTSW	15	36,100,358 (GRCm39)	missense	probably damaging	1.00
R4907:Rgs22	UTSW	15	36,087,570 (GRCm39)	missense	possibly damaging	0.61
R4944:Rgs22	UTSW	15	36,026,088 (GRCm39)	missense	possibly damaging	0.83
R4975:Rgs22	UTSW	15	36,055,022 (GRCm39)	nonsense	probably null
R5056:Rgs22	UTSW	15	36,050,391 (GRCm39)	splice site	probably null
R5138:Rgs22	UTSW	15	36,099,934 (GRCm39)	missense	probably benign	0.04
R5444:Rgs22	UTSW	15	36,015,773 (GRCm39)	missense	possibly damaging	0.83
R5507:Rgs22	UTSW	15	36,099,798 (GRCm39)	missense	probably damaging	0.99
R5640:Rgs22	UTSW	15	36,107,101 (GRCm39)	missense	probably benign	0.00
R5969:Rgs22	UTSW	15	36,015,782 (GRCm39)	missense	probably benign	0.00
R6005:Rgs22	UTSW	15	36,010,713 (GRCm39)	missense	probably benign	0.39
R6053:Rgs22	UTSW	15	36,100,153 (GRCm39)	missense	probably benign	0.04
R6134:Rgs22	UTSW	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
R6230:Rgs22	UTSW	15	36,100,176 (GRCm39)	missense	probably benign	0.02
R6295:Rgs22	UTSW	15	36,087,520 (GRCm39)	missense	probably benign	0.00
R6352:Rgs22	UTSW	15	36,093,067 (GRCm39)	missense	probably damaging	1.00
R6809:Rgs22	UTSW	15	36,048,910 (GRCm39)	missense	probably damaging	1.00
R6900:Rgs22	UTSW	15	36,010,893 (GRCm39)	missense	possibly damaging	0.61
R6947:Rgs22	UTSW	15	36,104,036 (GRCm39)	critical splice acceptor site	probably null
R7102:Rgs22	UTSW	15	36,122,459 (GRCm39)	missense	probably damaging	1.00
R7126:Rgs22	UTSW	15	36,103,954 (GRCm39)	missense	probably damaging	0.97
R7263:Rgs22	UTSW	15	36,015,789 (GRCm39)	missense	possibly damaging	0.86
R7623:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R7732:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R7748:Rgs22	UTSW	15	36,122,415 (GRCm39)	critical splice donor site	probably null
R7771:Rgs22	UTSW	15	36,050,224 (GRCm39)	missense	possibly damaging	0.94
R7835:Rgs22	UTSW	15	36,082,057 (GRCm39)	critical splice donor site	probably null
R7849:Rgs22	UTSW	15	36,099,858 (GRCm39)	missense	probably damaging	1.00
R7954:Rgs22	UTSW	15	36,082,148 (GRCm39)	missense	possibly damaging	0.75
R8384:Rgs22	UTSW	15	36,046,158 (GRCm39)	critical splice donor site	probably null
R8516:Rgs22	UTSW	15	36,010,481 (GRCm39)	makesense	probably null
R8904:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R8923:Rgs22	UTSW	15	36,093,106 (GRCm39)	missense	probably damaging	1.00
R9287:Rgs22	UTSW	15	36,098,409 (GRCm39)	missense	probably damaging	1.00
R9324:Rgs22	UTSW	15	36,087,544 (GRCm39)	missense	probably benign
R9660:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R9679:Rgs22	UTSW	15	36,087,587 (GRCm39)	missense	probably benign	0.00
R9728:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
RF035:Rgs22	UTSW	15	36,010,981 (GRCm39)	critical splice acceptor site	probably benign
RF043:Rgs22	UTSW	15	36,010,982 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGCATGAAGGAGGTTGGC -3'
(R):5'- TCCACAGCACACATTTCAGTAG -3'

Sequencing Primer
(F):5'- GGTGGGTGTATTACACAATTCC -3'
(R):5'- GCACACATTTCAGTAGCCAAATC -3'

Posted On

2016-06-15